The molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in French families; report of two novel mutations.
Liu
G
G
Laboratoire de Biochimie Génétique Centre National de la Recherche Scientifique, URA 1335, Hôpital Necker Enfants-Malades, Paris, France.
Aral
B
B
Zabot
M T
MT
Kamoun
P
P
Ceballos-Picot
I
I
D001483:Base Sequence; D002478:Cells, Cultured; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D005192:Family Health; D016368:Frameshift Mutation; D005602:France; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency* / Q000235:genetics; D007926:Lesch-Nyhan Syndrome / Q000201:enzymology / Q000235:genetics*; D009154:Mutation; D020125:Mutation, Missense; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017384:Sequence Deletion
D018076:DNA, Complementary; D007041:Hypoxanthine Phosphoribosyltransferase